ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.591C>T (p.Val197=) (rs554518844)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777690 SCV000913623 benign Arrhythmia 2018-10-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322164 SCV000370265 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374487 SCV000370266 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263393 SCV000370267 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316204 SCV000370268 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373259 SCV000370269 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000373259 SCV000555792 benign Long QT syndrome 2017-10-09 criteria provided, single submitter clinical testing

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